A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599477



Internal ID16040200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:115109326..115190313hg38UCSC Ensembl
Innerchr5:114445023..114526010hg19UCSC Ensembl
Innerchr5:114472922..114553909hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3880988
hg1980988
hg1880988
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1040565
Samples
Known GenesTRIM36
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599477
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer